Primary hyperoxaluria type 2 in children
- PMID: 12185464
- DOI: 10.1007/s00467-002-0858-6
Primary hyperoxaluria type 2 in children
Abstract
The primary hyperoxalurias (PH1 and PH2) are rare defects of oxalate overproduction. There are only 24 reported cases of PH2, which is characterized by raised urine oxalate and L-glycerate. We describe 13 previously unreported children with PH2, representing the largest single-centre cohort in the world. DNA samples were tested for a common mutation and four other documented mutations in the gene encoding the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). Two of the five kindred showed homozygosity for two different mutations in the GRHPR gene. The genetic defect was not identified in the other three families. The median age at diagnosis of PH2 was 1.7 years. Five children presented with nephrolithiasis between 0.8 and 9 years. Haematuria was common, but urinary tract infection and nephrocalcinosis were not. All had normal renal function at diagnosis, and only 1 patient had a significant decline in glomerular filtration rate. We conclude that all children with nephrolithiasis secondary to hyperoxaluria should have urinary glycerate measured, as PH2 may be more prevalent than currently estimated. DNA mutational analysis may be useful in supporting the diagnosis.
Similar articles
-
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.Hum Mutat. 2003 Dec;22(6):497. doi: 10.1002/humu.9200. Hum Mutat. 2003. PMID: 14635115
-
Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.Mol Urol. 2000 Winter;4(4):349-54. Mol Urol. 2000. PMID: 11156702
-
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.J Urol. 2009 May;181(5):2146-51. doi: 10.1016/j.juro.2009.01.045. Epub 2009 Mar 17. J Urol. 2009. PMID: 19296982
-
[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].Ned Tijdschr Geneeskd. 2006 Jul 29;150(30):1669-72. Ned Tijdschr Geneeskd. 2006. PMID: 16922352 Review. Dutch.
-
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.Mol Genet Metab. 2004 Sep-Oct;83(1-2):38-46. doi: 10.1016/j.ymgme.2004.08.009. Mol Genet Metab. 2004. PMID: 15464418 Review.
Cited by
-
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.Urolithiasis. 2018 Apr;46(2):187-195. doi: 10.1007/s00240-017-0996-8. Epub 2017 Jun 28. Urolithiasis. 2018. PMID: 28660284 Review.
-
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.Nephrol Dial Transplant. 2007 Aug;22(8):2371-4. doi: 10.1093/ndt/gfm271. Epub 2007 May 17. Nephrol Dial Transplant. 2007. PMID: 17510093 Free PMC article. No abstract available.
-
Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory.Kidney Int Rep. 2024 Sep 1;9(11):3083-3096. doi: 10.1016/j.ekir.2024.08.031. eCollection 2024 Nov. Kidney Int Rep. 2024. PMID: 39534212 Free PMC article.
-
Primary hyperoxalurias: diagnosis and treatment.Pediatr Nephrol. 2015 Oct;30(10):1781-91. doi: 10.1007/s00467-014-3030-1. Epub 2014 Dec 18. Pediatr Nephrol. 2015. PMID: 25519509 Review.
-
Primary hyperoxaluria.Int J Nephrol. 2011;2011:864580. doi: 10.4061/2011/864580. Epub 2011 Jun 16. Int J Nephrol. 2011. PMID: 21748001 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
